Incidental Mutation 'R4691:Ptk2b'
ID 354940
Institutional Source Beutler Lab
Gene Symbol Ptk2b
Ensembl Gene ENSMUSG00000059456
Gene Name PTK2 protein tyrosine kinase 2 beta
Synonyms proline-rich tyrosine kinase 2, related adhesion focal tyrosine kinase, cellular adhesion kinase beta, PYK2, CAKbeta, Raftk, calcium-dependent tyrosine kinase, E430023O05Rik
MMRRC Submission 041942-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # R4691 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 66390706-66518501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66394518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 859 (G859S)
Ref Sequence ENSEMBL: ENSMUSP00000106750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000178730]
AlphaFold Q9QVP9
Predicted Effect probably benign
Transcript: ENSMUST00000022620
SMART Domains Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 36 242 2.2e-81 PFAM
Pfam:Neur_chan_memb 249 503 5e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022622
AA Change: G863S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456
AA Change: G863S

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1008 1.7e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089250
AA Change: G821S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456
AA Change: G821S

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 828 966 2e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111121
AA Change: G859S

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456
AA Change: G859S

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 866 1004 1.1e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148104
Predicted Effect probably benign
Transcript: ENSMUST00000178730
AA Change: G863S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456
AA Change: G863S

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1002 2.1e-55 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000154865
AA Change: G235S
SMART Domains Protein: ENSMUSP00000122683
Gene: ENSMUSG00000059456
AA Change: G235S

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 83 8.5e-27 PFAM
low complexity region 117 130 N/A INTRINSIC
Pfam:Focal_AT 243 375 5e-57 PFAM
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show alterations in endothelial nitric oxide synthase-mediated vascular function and angiogenic responses. Mice homozygous for a second knock-out allele exhibit multiple defects in macrophage migration and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,384,195 (GRCm39) R3882S probably damaging Het
Adamts2 G T 11: 50,647,523 (GRCm39) V299F probably damaging Het
Ankrd50 A G 3: 38,537,159 (GRCm39) S65P probably benign Het
Ap4e1 T C 2: 126,903,791 (GRCm39) C898R probably benign Het
Arel1 A T 12: 84,977,023 (GRCm39) probably null Het
Bag6 T A 17: 35,358,224 (GRCm39) V164D probably damaging Het
C2cd5 A G 6: 142,975,874 (GRCm39) S769P possibly damaging Het
Cables1 C T 18: 11,973,580 (GRCm39) Q240* probably null Het
Ccnb1-ps T A 7: 41,755,516 (GRCm39) noncoding transcript Het
Ccz1 A T 5: 143,928,380 (GRCm39) I390N possibly damaging Het
Ceacam23 T A 7: 17,642,891 (GRCm39) S434T possibly damaging Het
Ces1a T C 8: 93,759,287 (GRCm39) H283R probably benign Het
Clca3b G A 3: 144,544,853 (GRCm39) T378I probably benign Het
Cpne2 A T 8: 95,284,849 (GRCm39) I342F probably damaging Het
Cyp2d9 A G 15: 82,340,033 (GRCm39) D141G probably damaging Het
Ddias T A 7: 92,508,024 (GRCm39) K630N probably damaging Het
Dennd4b A G 3: 90,179,619 (GRCm39) T626A probably damaging Het
Disc1 T C 8: 125,875,186 (GRCm39) V554A possibly damaging Het
Dnah10 A G 5: 124,852,581 (GRCm39) T1880A probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Epop C T 11: 97,519,719 (GRCm39) G130D possibly damaging Het
Erap1 T C 13: 74,821,811 (GRCm39) L722P probably damaging Het
Eya4 T A 10: 23,015,966 (GRCm39) T334S probably benign Het
Ezr T C 17: 7,026,961 (GRCm39) I5V probably benign Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Galnt12 T C 4: 47,104,143 (GRCm39) S134P probably damaging Het
Gcfc2 T A 6: 81,918,408 (GRCm39) L366* probably null Het
Gins4 T A 8: 23,727,075 (GRCm39) D6V probably benign Het
Grid1 A G 14: 35,291,514 (GRCm39) H807R probably benign Het
H2-T22 GTTTT GTTT 17: 36,352,462 (GRCm39) probably null Het
Ighv1-66 T C 12: 115,556,929 (GRCm39) Y51C probably benign Het
Inpp4b A T 8: 82,849,282 (GRCm39) Y901F probably damaging Het
Irf2 T A 8: 47,299,222 (GRCm39) S339T probably damaging Het
Itgae G T 11: 73,010,345 (GRCm39) G612* probably null Het
Kdr T C 5: 76,105,259 (GRCm39) K1037R possibly damaging Het
Mro A T 18: 74,006,397 (GRCm39) M115L probably benign Het
Myo5a A G 9: 75,087,438 (GRCm39) E1098G probably damaging Het
Nkx2-1 T A 12: 56,580,350 (GRCm39) M197L probably benign Het
Or7e165 T C 9: 19,694,678 (GRCm39) I83T probably benign Het
Pank2 T A 2: 131,138,201 (GRCm39) F430L possibly damaging Het
Pcx T A 19: 4,669,505 (GRCm39) V794E probably damaging Het
Pdgfd C T 9: 6,288,556 (GRCm39) P70L probably damaging Het
Pla2g4e T C 2: 120,004,781 (GRCm39) Y521C probably damaging Het
Pou5f1 T A 17: 35,817,028 (GRCm39) F11Y probably damaging Het
Prdm9 A G 17: 15,773,640 (GRCm39) M252T probably benign Het
Rad51ap1 A G 6: 126,904,516 (GRCm39) S123P probably benign Het
Robo3 T C 9: 37,336,514 (GRCm39) E418G probably damaging Het
Sos2 C T 12: 69,663,102 (GRCm39) R631H probably damaging Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
St3gal2 C T 8: 111,684,417 (GRCm39) T25I probably benign Het
Stra6l G A 4: 45,882,851 (GRCm39) A521T probably benign Het
Syt7 T A 19: 10,403,845 (GRCm39) L177Q probably damaging Het
Tet2 T A 3: 133,191,844 (GRCm39) Q863H possibly damaging Het
Tmem232 T C 17: 65,572,237 (GRCm39) K585E possibly damaging Het
Trpc6 A C 9: 8,652,979 (GRCm39) E595A probably damaging Het
Txnl1 A G 18: 63,804,750 (GRCm39) V248A possibly damaging Het
Vmn2r72 A T 7: 85,387,119 (GRCm39) L815* probably null Het
Vmn2r81 C T 10: 79,129,211 (GRCm39) Q701* probably null Het
Vps13c T C 9: 67,860,217 (GRCm39) V2811A possibly damaging Het
Vsig10l2 T C 9: 35,428,158 (GRCm39) S106G possibly damaging Het
Zfp354a A G 11: 50,961,064 (GRCm39) E425G probably damaging Het
Zfp617 A T 8: 72,686,659 (GRCm39) T330S probably benign Het
Zfp663 G T 2: 165,201,050 (GRCm39) probably benign Het
Zfp84 T C 7: 29,476,505 (GRCm39) L399P probably damaging Het
Zfp869 A T 8: 70,159,513 (GRCm39) C353* probably null Het
Zscan22 C T 7: 12,640,488 (GRCm39) A85V probably benign Het
Other mutations in Ptk2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Ptk2b APN 14 66,414,567 (GRCm39) missense possibly damaging 0.54
IGL01940:Ptk2b APN 14 66,396,062 (GRCm39) missense probably benign 0.00
IGL02121:Ptk2b APN 14 66,450,931 (GRCm39) missense probably benign 0.12
IGL02505:Ptk2b APN 14 66,391,692 (GRCm39) missense probably damaging 1.00
IGL03036:Ptk2b APN 14 66,411,344 (GRCm39) splice site probably benign
IGL03343:Ptk2b APN 14 66,406,870 (GRCm39) missense probably benign 0.10
FR4548:Ptk2b UTSW 14 66,411,298 (GRCm39) missense possibly damaging 0.95
FR4737:Ptk2b UTSW 14 66,411,298 (GRCm39) missense possibly damaging 0.95
R0217:Ptk2b UTSW 14 66,393,830 (GRCm39) missense probably damaging 1.00
R0478:Ptk2b UTSW 14 66,450,821 (GRCm39) missense probably damaging 1.00
R0556:Ptk2b UTSW 14 66,409,593 (GRCm39) missense probably damaging 1.00
R0631:Ptk2b UTSW 14 66,415,200 (GRCm39) missense probably damaging 0.96
R0946:Ptk2b UTSW 14 66,396,047 (GRCm39) missense probably benign 0.02
R1502:Ptk2b UTSW 14 66,400,529 (GRCm39) missense possibly damaging 0.95
R1583:Ptk2b UTSW 14 66,400,563 (GRCm39) missense possibly damaging 0.75
R1876:Ptk2b UTSW 14 66,395,841 (GRCm39) missense probably benign 0.01
R1905:Ptk2b UTSW 14 66,396,119 (GRCm39) missense probably damaging 1.00
R1942:Ptk2b UTSW 14 66,406,830 (GRCm39) missense probably damaging 1.00
R2048:Ptk2b UTSW 14 66,409,954 (GRCm39) missense probably benign 0.28
R2377:Ptk2b UTSW 14 66,409,997 (GRCm39) missense possibly damaging 0.56
R3021:Ptk2b UTSW 14 66,415,632 (GRCm39) splice site probably null
R3793:Ptk2b UTSW 14 66,407,700 (GRCm39) missense probably damaging 1.00
R3836:Ptk2b UTSW 14 66,393,791 (GRCm39) missense probably damaging 1.00
R3911:Ptk2b UTSW 14 66,394,517 (GRCm39) missense possibly damaging 0.83
R4654:Ptk2b UTSW 14 66,400,496 (GRCm39) missense possibly damaging 0.86
R4690:Ptk2b UTSW 14 66,410,749 (GRCm39) splice site probably null
R4692:Ptk2b UTSW 14 66,394,518 (GRCm39) missense probably benign 0.16
R4693:Ptk2b UTSW 14 66,394,518 (GRCm39) missense probably benign 0.16
R4847:Ptk2b UTSW 14 66,411,331 (GRCm39) missense probably damaging 1.00
R5176:Ptk2b UTSW 14 66,393,864 (GRCm39) missense probably damaging 1.00
R5297:Ptk2b UTSW 14 66,409,966 (GRCm39) missense probably benign 0.04
R5603:Ptk2b UTSW 14 66,409,514 (GRCm39) nonsense probably null
R5935:Ptk2b UTSW 14 66,411,328 (GRCm39) missense probably damaging 1.00
R6245:Ptk2b UTSW 14 66,400,515 (GRCm39) missense probably damaging 1.00
R6313:Ptk2b UTSW 14 66,416,280 (GRCm39) missense probably damaging 1.00
R6476:Ptk2b UTSW 14 66,424,923 (GRCm39) missense possibly damaging 0.81
R6858:Ptk2b UTSW 14 66,450,847 (GRCm39) missense probably damaging 1.00
R7235:Ptk2b UTSW 14 66,394,536 (GRCm39) nonsense probably null
R7511:Ptk2b UTSW 14 66,391,693 (GRCm39) missense possibly damaging 0.81
R7558:Ptk2b UTSW 14 66,391,628 (GRCm39) missense possibly damaging 0.83
R7838:Ptk2b UTSW 14 66,395,850 (GRCm39) missense probably benign
R8520:Ptk2b UTSW 14 66,412,204 (GRCm39) missense probably damaging 1.00
R8672:Ptk2b UTSW 14 66,393,841 (GRCm39) missense probably benign 0.40
R8888:Ptk2b UTSW 14 66,412,242 (GRCm39) missense probably benign
R8895:Ptk2b UTSW 14 66,412,242 (GRCm39) missense probably benign
R8940:Ptk2b UTSW 14 66,407,685 (GRCm39) critical splice donor site probably null
R9164:Ptk2b UTSW 14 66,404,222 (GRCm39) missense possibly damaging 0.94
R9168:Ptk2b UTSW 14 66,424,899 (GRCm39) missense probably damaging 0.99
R9285:Ptk2b UTSW 14 66,410,844 (GRCm39) missense possibly damaging 0.67
R9346:Ptk2b UTSW 14 66,415,541 (GRCm39) missense possibly damaging 0.66
R9442:Ptk2b UTSW 14 66,409,189 (GRCm39) missense probably damaging 1.00
R9581:Ptk2b UTSW 14 66,450,789 (GRCm39) missense probably damaging 1.00
R9649:Ptk2b UTSW 14 66,413,154 (GRCm39) nonsense probably null
R9666:Ptk2b UTSW 14 66,409,546 (GRCm39) missense probably damaging 1.00
X0054:Ptk2b UTSW 14 66,450,777 (GRCm39) missense probably benign 0.15
Y5405:Ptk2b UTSW 14 66,391,543 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTCTAGTCAGGGAAGAGACC -3'
(R):5'- TCTGGCTACTGGGAAAGCAG -3'

Sequencing Primer
(F):5'- AAAAACTGGCCCGTCTCCTATTTTG -3'
(R):5'- GGAAGACCAAGATCCTATTTCCTTGG -3'
Posted On 2015-10-21